| Primary Identifier | MGI:1338074 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 16151 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables K63-linked polyubiquitin modification-dependent protein binding activity; identical protein binding activity; and signaling adaptor activity. Involved in several processes, including anoikis; canonical NF-kappaB signal transduction; and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Acts upstream of or within B cell homeostasis and positive regulation of canonical NF-kappaB signal transduction. Located in cytoplasm. Is expressed in early conceptus; genitourinary system; and musculature. Used to study Bloch-Sulzberger syndrome and steatotic liver disease. Human ortholog(s) of this gene implicated in Behcet's disease; Bloch-Sulzberger syndrome; X-linked recessive disease (multiple); learning disability; and liver cancer. Orthologous to human IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma). PHENOTYPE: Males hemizygous for targeted null mutations exhibit embryonic lethality by embryonic day 13.5 from apoptotic liver damage. Heterozygous females show patchy skin lesions with granulocyte infiltration, growth retardation, and shortened lifespan. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
